Genetic Testing Services

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iGene®Non-Invasive Prenatal Test (NIPT)

iGene® Non-Invasive Prenatal Test (NIPT) that analyses cell-free fetal DNA (cffDNA) present in maternal blood. This DNA comes from the placenta and circulates freely in the maternal bloodstream.

iGene® NIPT screens for Trisomy 21 (Down Syndrome), Trisomy 18 (Edward Syndrome), Trisomy 13 (Patau Syndrome), Sex Chromosome Aneuploidies and selected Deletions1.

What iGene® NIPT covers

iGene® NIPT can detect Trisomy 21, 18, 13, Sex Chromosome Aneuploidies and selected Deletion Syndromes. iGene® NIPT can be performed on expectant mothers who may be considering, or have been offered, prenatal testing for fetal trisomy2.

Trisomy Aneuploidies 1

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)

Sex Chromosome Aneuploidies 3

  • Trisomy X (Triple X Syndrome)

  • Monosomy X (Turner Syndrome)

  • XXY (Klinefelter Syndrome)

  • XYY (Jacobs Syndrome)

Deletion/Duplication Syndromes *

  • 2q11.2 Deletion Syndrome (DiGeorge Syndrome)
  • 5p-Deletion Syndrome (Cri du Chat Syndrome)
  • 1p36 Deletion Syndrome
  • 16p12.2 Deletion Syndrome
  • 2q33.1 Microdeletion Syndrome
  • 11q23 Microdeletion Syndrome (Jacobsen Syndrome)
  • 1q32.2 Microdeletion Syndrome (Van der Woude Syndrome)
  • 15q11.2 Microdeletion Syndrome (Prader-Willi/Angelman Syndrome)

Additional Trisomies *

  • Trisomy 9

  • Trisomy 16

  • Trisomy 22

Fetal Sex *

  • Information on fetal sex will be reported if requested.

iGene® NIPT is powered by BGI Technology.

Medical treatment has to be individualised and can only be rendered after adequate assessment of your condition through appropriate clinical examination, and after discussion with your doctor. You should not rely on the information provided herein. Please note that the contents of this page are provided on the understanding that no surgical or medical advice or recommendation is being rendered.

1. Zhang et al.,Ultrasound Obstet. & Gynecol 2015
2. Liu H, et al., PLoS One 2016.
3. Jiang F, et al. BMC Medical Genomics, 2012, 5:57.
* Based on in-silico data.

Fetal DNA Chip (version 2.0)

Fetal DNA Chip V2 is a Chromosomal Microarray (CMA) test specifically designed to diagnose common Microdeletion/ duplication syndromes which would not be detected by conventional karyotype analysis. The version 2 chip now also enables us to diagnose uniparental isodisomy.

The Fetal DNA Chip testing was first launched in Hong Kong in 2009 by The Department of Obstetrics and Gynaecology of the Chinese University of Hong Kong.

Fetal Chip test has range of applications, including miscarriages, invasive prenatal diagnosis for high risk pregnancies such as fetal ultrasound anomalies and/or other indications.

Benefits from this test:

  • More Comprehensive than Karyotyping: In addition to major chromosomal abnormalities, the Fetal DNA Chip can diagnose more than 100 recognized microdeletion/ duplication syndromes and uniparental isodisomy.
  • Higher Resolution: 50-fold higher and detects much smaller abnormalities than karyotyping analysis.
  • Rapid Result: Reporting time within 7-10 working days. The reporting for karyotyping analysis usually takes 2 to 3 weeks.

Fetal Seq (version 1.0)

FetalSeq v1.0 utilizes an innovative next generation sequencing platform for a more comprehensive, precise assessment of pathogenic copy number variants detection, compared to Fetal DNA Chip. It is a genetic test utilizing whole-genome sequencing for identifying clinically significant copy-number variants (CNVs), microdeletion and microduplication syndromes and chromosome aneuploidies. FetalSeq is developed and validated by The Chinese University of Hong Kong.

FetalSeq provides genetic investigation across different applications, including miscarriages, invasive prenatal diagnosis for high risk pregnancies such as fetal ultrasound anomalies and/or other indications, and postnatal cases with developmental delay and disabilities.

Advantages of FetalSeq v1.0:

Compared with Fetal DNA Chip, FetalSeq v1.0 can detect deletion(s) and duplication(s):

  • More comprehensively: on a genome-wide scale at a higher resolution (>50kb) with evenly distributed sequencing reads, including some cryptic disease-related regions not covered by Fetal DNA Chip.
  • More precise: in a non-targeted manner, which reduces bias and improves detection of precise boundaries of deletions/ duplications.
  • Requiring less DNA input. 


The human exome constitutes about 2% of the genome which encodes proteins for life function. We know most of the disease causing genetic mutations are located in the exome.

  • High coverage of most exome – Based on genome sequencing and  analysis of the exome, covering nearly the entire protein coding region of the genome.
  • Analyzing all annotated gene – Analysis of the coding regions of more than 20,000 annotated genes for pathogenic or likely pathogenic variants related to patients’ clinical phenotype(s).
  • Enhancing the detection scope – One-stop detection of single nucleotide variants (SNVs), small insertions and deletions (InDels) and genome-wide absence of heterozygosity at 5 Mb.
  • Flexibility to know more – Opt in to know your carrier status for autosomal recessive conditions and risk for medically actionable diseases.
  • Quick and responsive service – From sample collection to report issuing: 14 calendar days for trio; 28 calendar days for proband only. Sample types: amniotic fluid, blood, tissue, saliva and DNA.

Rhene® RhD Non-Invasive Prenatal Test (NIPT) for Fetal RhD Status

Non-Invasive Prenatal Test (NIPT) for Fetal RhD Status is used to non-invasively predict the RhD Status of the fetus by analysing cell-free fetal DNA (cffDNA) in the maternal plasma.

What is Rhesus D?

Antigens are protein variants which the immune system can recognise. “Rh” refers to the Rhesus antigen system. There are several different Rh antigens, one of it is Rh (D).

Why is the Rh status important for pregnancy?

During pregnancy, if a fetus is Rh (D) positive and the mother is Rh (D) negative, the mother may make antibodies to attack the baby’s red cells. These antibodies can destroy the fetal red cells leading to anaemia in the fetus. This is called Haemolytic Disease of the Newborn (HDN).

Ordering the test can only be rendered after adequate assessment of your condition and discussion with your clinician.

1. Saramago et al., High-throughput non-invasive prenatal testing for fetal rhesus D status in RhD-negative women not known to be sensitised to the RhD antigen: A systematic review and economic evaluation. Health Technology Assessment. 22. 2018; 1-172 2.
2. de Haas et al., Anti-D prophylaxis: past present and future. Transfus Med 2014:24:1-7.
3. NICE Diagnostics guidance [DG25l High-throughput non-invasive prenatal testing for fetal RHD genotype. 2016

Medical treatment has to be individualised and can only be rendered after adequate assessment of your condition through appropriate clinical examination, and after discussion with your clinician.

Carrier Screening

Carrier screening identifies patients who are at increased risk of having a child affected with a genetic disorder, providing actionable information for the next steps of their reproductive journey.

Carrier Screening can be offered to individuals or couples.

Preconception Individual
(Female or Male)

Individuals may be considered for carrier screening based on a family history of a genetic condition.

Couple (Simultaneously)

Both partners may be screened at the same time for results.

Couple (Sequentially)

The test can be performed simultaneously. If the female partner is found to be a carrier, the male partner undergoes the testing as well.

CarrierGene panel tailored to Asian population

  • Duchenne Muscular Dystrophy (DMD) related Dystrophinopathy
  • Spinal Muscular Atrophy (SMA)
  • Fragile X Syndrome
  • Cystic Fibrosis and other CFTR-related disorders
  • Wilson Disease
  • Alpha-thalassemia
  • Beta-thalassemia